Table 2 the studied patients and their responsible genes and variants in our study

1

1

PLA2G6

Chr22:g38115658

NM_003560.4

c.1903 C > T

p.Arg635Ter

Reported

PMIDs:32,357,911, 29,482,223, 16,783,378, 30,340,910, 25,164,370, 22,934,738

2

2

PLA2G6

Chr22:g38140111

NM_003560.4

c.668 C > T

p.Pro223Leu

Reported

PMID: 29,454,663

3

3

PLA2G6

Chr22:g38113581

NM_003560.4

c.2108T > A

p.Val703Glu

Novel

-

4

4

PLA2G6

Chr22:g38140111

NM_003560.4

c.668 C > T

p.Pro223Leu

Reported

PMID: 29,454,663

5

5

PLA2G6

Chr22:g38132946

NM_003560.4

c.962T > C

p.Leu321Pro

Novel

-

PLA2G6

Chr22:g38132869

c.1039G > A

p.Gly347Arg

Reported

PMIDs:31,496,990, 27,196,560, 26,196,026, 16,783,378,

6

6

PLA2G6

Chr22:g38115589

NM_003560.4

c.1972 A > G

p.Asn658Asp

Novel

-

7

7

PLA2G6

Chr22:g38135012

NM_003560.4

c.865_869dup

p.Leu291AlafsTer16

Novel

-

8

8

PLA2G6

Chr22:g38140106

NM_003560.4

c.673 C > T

p.His225Tyr

Reported

PMID: 24,130,795

9

9

PLA2G6

Chr22:g38120879

NM_003560.4

c.1622 A > C

p.Tyr541Ser

Novel

-

10

10

PLA2G6

Chr22:g38112212

NM_003560.4

c.2370T > G

p.Tyr790Ter

Reported

PMIDs:30,868,093, 20,886,109, 32,357,911, 29,913,018, 30,293,248, 20,495,927

11

11

PLA2G6

Chr22:g38115589

NM_003560.4

c.1972 A > G

p.Asn658Asp

Novel

-

12

12

PLA2G6

Chr22:g38112559

NM_003560.4

c.2221 C > T

p.Arg741Trp

Reported

PMIDs: 27,196,560, 20,886,109, 31,516,627, 30,713,958

13

13

PLA2G6

Chr22:g38123259

NM_003560.4

c.1428-1G > A

Reported

PMID:35,083,005

14

14

PLA2G6

Chr22:g38115612

NM_003560.4

c.1949T > C

p.Phe650Ser

Reported

PMID:35,083,005

15

15

PLA2G6

Chr22:g38120889

NM_003560.4

c.1612 C > A

p.Arg538Ser

Reported

PMID:30,363,890

16

16

PLA2G6

Chr22:g38132923

NM_003560.4

c.985 C > T

p.Arg329Cys

Reported

PMID:27,196,560

17

17

PLA2G6

Chr22:g38126370

NM_003560.4

c.1427 + 1G > C

Novel

-

18

18

PLA2G6

Chr22:g38115546

NM_003560.4

c.2015 A > T

p.Asn672Ile

Novel

-

19

19

PLA2G6

Chr22:g38132923

NM_003560.4

c.985 C > T

p.Arg329Cys

Reported

PMID:27,196,560

20

20

CWF19L1

Chr10:g100253470

NM_018294.6

c.574T > C

p.Tyr192His

Novel

-

21

21

SNX14

Chr6:g85543737

NM_153816.6

c.1132 C > T

p.Arg378Ter

Reported

PMID:33,193,593, 25,848,753

22

22

THG1L

Chr5:g157734595

NM_017872.5

c.388G > A

p.Ala130Thr

Novel

-

23

23

VPS13D

Chr1:g12333243

NM_015378.4

c.8305G > C

p.Glu2769Gln

Novel

-

24

24

RUBCN

Chr3:g197693780

NM_014687.4

c.1721 C > G

p.Ser574Ter

Novel

-

25

25

GRID2

Chr4:g 93,224,683

NM_001510.4

c.1033 C > T

p.Arg345Ter

Novel

-

26

26

MME

Chr3:g155180448

NM_001354642.1

c.2242 C > T

p.Arg748Trp

Novel

-

27

27

FAT2

Chr5:g151505702

NM_001447.3

c.12913G > T

p.Ala4305Ser

Novel

-

28

28

ATM

Chr11:g108321299

NM_000051.4

c.6453-2 A > G

Novel

-

29

29

ATM

Chr11:g108315863

NM_000051.4

c.6047 A > G

p.Asp2016Gly

Reported

PMID:9,887,333, 11,826,030, 24,825,865, 11,826,026, 11,826,029

30

30

ATM

Chr11:g108279526

NM_000051.4

c.3320T > G

p.Leu1107Ter

Novel

-

31

31

ATM

Chr11:g108244954

NM_000051.4

c.829G > T

p.Glu277Ter

Reported

PMID:32,962,506, 32,091,409

32

32

ATM

Chr11:g108316015

NM_000051.4

c.6100 C > T

p.Arg2034Ter

Reported

PMID:11,505,391, 29,731,985

33

33

ATM

Chr11:g108316015

NM_000051.4

c.6100 C > T

p.Arg2034Ter

Reported

PMID:11,505,391, 29,731,985

34

34

ATM

Chr11:g108335008

NM_000051.4

c.8050 C > T

p.Gln2684Ter

Novel

-

35

35

ATM

Chr11:g108365138

NM_000051.4

c.6100 C > T

p.Tyr2969Ter

Reported

PMID:11,505,391, 29,731,985

ATM

Chr11:g108227691

NM_000051.4

c.67 C > T

p.Arg23Ter

Reported

PMID:26,506,520

36

36

ATM

Chr11:g108307928

NM_000051.4

c.5712dup

p.Ser1905IlefsTer25

Reported

PMID:18,321,536

37,38

37

ATM

Chr11:g108317432

NM_000051.4

c.6259delG

p.Glu2087LysfsTer9

Reported

PMID:32,095,276

39

38

ATM

Chr11:g108244954

NM_000051.4

c.829G > T

p.Glu277Ter

Reported

PMID:32,962,506, 32,091,409

40

39

ATM

Chr11:g108315863

NM_000051.4

c.6047 A > G

p.Asp2016Gly

Reported

PMID:9,887,333, 11,826,030, 24,825,865, 11,826,026, 11,826,029

41

40

ATM

Chr11:g108284374

NM_000051.4

c.3895del

p.Ala1299ProfsTer50

Novel

-

42

41

ATM

Chr11:g108330234

NM_000051.4

c.7328G > A

p.Arg2443Gln

Reported

PMID:31,740,029, 31,754,145, 26,630,574, 27,175,599

43

42

SACS

Chr13:g23333063

NM_014363.6

c.10,813 A > T

p.Lys3605Ter

Reported

PMID: 35,731,353

44

43

SACS

Chr13:g23334010

NM_014363.6

c.9866 C > G

p.Ser3289Ter

Reported

PMID: 35,731,353

45

44

SACS

Chr13:g23335744

NM_014363.6

c.8132 C > A

p.Ser2711Ter

Reported

PMID: 35,731,353

46

45

SACS

Chr13:g23341436

NM_014363.6

c.2439_2440delAT

p.Val815GlyfsTer4

Reported

PMID: 35,731,353

47

46

SACS

Chr13:g23340595

NM_014363.6

c.3281dupA

p.Asn1094LysfsTer18

Reported

PMID: 35,731,353

48

47

SACS

Chr13:g23340449

NM_014363.6

c.3427 C > T

p.Gln1143Ter

Reported

PMID: 35,731,353

49

48

SACS

Chr13:g23335160

NM_014363.6

c.8716 C > T

p.Arg2906Ter

Reported

PMID: 35,731,353

50

49

SACS

Chr13:g23336372

NM_014363.6

c.7504 C > T

p.Arg2502Ter

Reported

PMID: 35,731,353

51

50

SACS

Chr13:g23340183

NM_014363.6

c.3695_3697del

p.Val1232del

Reported

PMID: 35,731,353

52

51

SACS

Chr13:g23332097

NM_014363.6

c.11779G > C

p.Ala3927Pro

Reported

PMID: 35,731,353

53

52

SACS

Chr13:g23332097

NM_014363.6

c.11779G > C

p.Ala3927Pro

Reported

PMID: 35,731,353

54

53

SACS

Chr13:g.23,907,390

NM_014363.6

c.10,625 A > G

p.Asp3542Gly

Novel

Chr13:g.23,905,173

NM_014363.6

c.12831_12841dupTCCTCTTTTCT

p.Ser4281PhefsTer31

Novel

55

54

APTX

Chr9:g32974539

ENST00000379817.7

c.793 A > T

p.Ser265Cys

Novel

-

56,57

55

APTX

Chr9:g32984821

ENST00000379817.7

c.582del

p.Lys194AsnfsTer20

Novel

-

58

56

APTX

Chr9:g32984667

ENST00000379817.7

c.734G > A

p.Arg245His

Novel

-

59

57

APTX

Chr9:g32984842

ENST00000379817.7

c.559 C > T

p.Gln187Ter

Reported

PMID:29,356,829

60

58

APTX

Chr9:g32987650

NM_001195248.2

c.376delA

p.Arg126GlyfsTer26

Novel

-

61

59

COQ8A

Chr1:g226983633

NM_020247.5

c.1162G > A

p.Gly388Ser

Novel

-

62

60

COQ8A

Chr1:g226982107

NM_020247.5

c.811 C > T

p.Arg271Cys

Reported

PMID:24,218,524, 30,637,285, 32,337,771, 24,164,873, 29,255,295, 29,915,382

63

61

COQ8A

Chr1:g227169811

NM_020247.5

c.814G > T

p.Gly272Cys

Reported

PMID:35,275,351

64,65

62

TTPA

Chr8:g63061291

NM_000370.3

c.798del

p.Glu267LysfsTer27

Novel

-

66

63

NPC2

Chr14:g74484506

NM_001375440.1

c.272 A > T

p.Asp91Val

Novel

-

67

64

NPC2

Chr14:74484506

NM_006432.5

c.272 A > T

p.Asp91Val

Novel

-

68

65

MFSD8

Chr4:g127965071

NM_152778.3

c.62 + 1G > A

Novel

-

69

66

MFSD8

Chr4:g127930787

NM_001371596.1

c.894T > G

p.Tyr298Ter

Reported

PMID:17,564,970

70,71

67

MFSD8

Chr4:g127943750

NM_001371596.1

c.439 + 2T > C

-

Novel

-

72

68

TPP1

Chr11:g6615170

NM_000391.4

c.1425 + 1G > T

Novel

-submitted

73

69

CLN3

Chr16:g28477598

NM_001286110.2

c.1073_1074insAGAGAAATGAATGAGCCTACAGATGATAGGATGTGGTGTT

p.Cys359GlufsTer3

Novel

-

74

70

CLN6

Chr15:g68211685

NM_017882.3

c.476 C > T

p.Pro159Leu

Reported

PMID:30,285,654, 19,201,763

75

71

CLN5

Chr13:g76992159

ENST00000377453.9

c.61 C > T

p.Arg21Trp

Reported

PMID:22,727,047, PMID:21,990,111

77

72

POLG

Chr15:g89318535

ENST00000268124.11

c.3482 + 6 C > T

Novel

-

78

73

BRAT1

Chr7:g2544941

ENST00000340611.9

c.398 A > G

p.His133Arg

Novel

-

79

74

MT-ATP6

ChrM:8993

ENST00000361899.2

c.467T > G

p.Leu156Arg

Reported

PMID: 1,539,598

80

75

DARS2

Chr1:g173857548

NM_018122.5

c.1781G > A

p.Gly594Glu

Novel

-

81,82

76

NARS2

Chr11:g78559588

NM_024678.6

c.545T > A

p.Ile182Lys

Reported

PMID:34,374,940

83

77

TMEM237

Chr2:g201632053

NM_001044385.3

c.550dup

p.Ser184LysfsTer8

Novel

-

84

78

AHI1

Chr6:g135463145

NM_001134831.2

c.910dup

p.Thr304AsnfsTer6

Reported

PMID:26,541,515

85

79

CEP120

Chr5:123377502

NM_001375405.1

c.2230 C > T

p.Arg744Cys

Novel

-

86

80

ATCAY

Chr19(hg38):g3913774

NM_033064.5

c.883_884del

p.Lys295AspfsTer52

Reported

[27]

87

81

GAN

Chr16:g81363869

NM_022041.4

c.1162delC

p.Leu388Ter

Reported

[28]

88,89

82

GAN

Chr16:g81354492

NM_022041.4

c.370T > A

p.Phe124Ile

Reported

[28]

90

83

SAMD9

Chr7:g93101540

NM_001193307.1

c.4558G > T

p.Glu1520Ter

Novel

-

91

84

HEXA

Chr15:g72345461

NM_000520.6

c.1511G > A

p.Arg504His

Reported

PMID:16,088,929, 31,367,523, 29,482,223

92

85

KIF1C

Chr17:g5020864

NM_006612.6

c.1996G > T

p.Glu666Ter

Novel

-

93

86

RNASET2

Chr6:g166938996

NM_003730.6

c.345G > A

p.Trp115Ter

Novel

-

94

87

FIG4

Chr6:g109776937

NM_014845.6

c.1766 A > G

p.Asp589Gly

Novel

-

95,96

88

SIL1

Chr5:g138951290

NM_022464.5

c.910 C > T

p.Gln304Ter

Novel

-

97

89

ADD3

Chr10:g110122249

NM_016824.5

c.1100G > A

p.Gly367Asp

Reported

PMID:23,836,506, 28,492,530, 30,369,941, 28,042,670, 27,391,121

98

90

WDR81

Chr17:g1726544

NM_001163809.2

c.1585 C > G

p.Arg529Gly

Novel

-

99

91

ERLIN2

Chr8:37744568

NM_007175.8

c.299-3 C > T

-

Novel

-

100

92

ELP2

Chr18:36159780

NM_018255.4

c.1580G > A

p.Ser527Asn

Novel

-